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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 6-87256691-TAGAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=87256691&ref=TAGAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 87256691,
"ref": "TAGAA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_015021.3",
"consequences": [
{
"aa_ref": "ER",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.3066_3069delAAGA",
"hgvs_p": "p.Glu1022fs",
"transcript": "NM_015021.3",
"protein_id": "NP_055836.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 2723,
"cds_start": 3066,
"cds_end": null,
"cds_length": 8172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369577.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015021.3"
},
{
"aa_ref": "ER",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.3066_3069delAAGA",
"hgvs_p": "p.Glu1022fs",
"transcript": "ENST00000369577.8",
"protein_id": "ENSP00000358590.3",
"transcript_support_level": 1,
"aa_start": 1022,
"aa_end": null,
"aa_length": 2723,
"cds_start": 3066,
"cds_end": null,
"cds_length": 8172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015021.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369577.8"
},
{
"aa_ref": "ER",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.3051_3054delAAGA",
"hgvs_p": "p.Glu1017fs",
"transcript": "ENST00000339907.8",
"protein_id": "ENSP00000342847.4",
"transcript_support_level": 5,
"aa_start": 1017,
"aa_end": null,
"aa_length": 2718,
"cds_start": 3051,
"cds_end": null,
"cds_length": 8157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339907.8"
},
{
"aa_ref": "ER",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.2646_2649delAAGA",
"hgvs_p": "p.Glu882fs",
"transcript": "NM_001351444.2",
"protein_id": "NP_001338373.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 2583,
"cds_start": 2646,
"cds_end": null,
"cds_length": 7752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351444.2"
},
{
"aa_ref": "ER",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.3066_3069delAAGA",
"hgvs_p": "p.Glu1022fs",
"transcript": "ENST00000699914.1",
"protein_id": "ENSP00000514683.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 2328,
"cds_start": 3066,
"cds_end": null,
"cds_length": 6989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699914.1"
},
{
"aa_ref": "ER",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.2646_2649delAAGA",
"hgvs_p": "p.Glu882fs",
"transcript": "XM_005248697.5",
"protein_id": "XP_005248754.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 2583,
"cds_start": 2646,
"cds_end": null,
"cds_length": 7752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248697.5"
},
{
"aa_ref": "ER",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.2646_2649delAAGA",
"hgvs_p": "p.Glu882fs",
"transcript": "XM_017010578.3",
"protein_id": "XP_016866067.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 2583,
"cds_start": 2646,
"cds_end": null,
"cds_length": 7752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010578.3"
},
{
"aa_ref": "ER",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.2646_2649delAAGA",
"hgvs_p": "p.Glu882fs",
"transcript": "XM_017010580.2",
"protein_id": "XP_016866069.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 2583,
"cds_start": 2646,
"cds_end": null,
"cds_length": 7752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010580.2"
},
{
"aa_ref": "ER",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.2646_2649delAAGA",
"hgvs_p": "p.Glu882fs",
"transcript": "XM_017010583.2",
"protein_id": "XP_016866072.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 2583,
"cds_start": 2646,
"cds_end": null,
"cds_length": 7752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010583.2"
},
{
"aa_ref": "ER",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.2646_2649delAAGA",
"hgvs_p": "p.Glu882fs",
"transcript": "XM_017010584.3",
"protein_id": "XP_016866073.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 2583,
"cds_start": 2646,
"cds_end": null,
"cds_length": 7752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010584.3"
},
{
"aa_ref": "ER",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.2646_2649delAAGA",
"hgvs_p": "p.Glu882fs",
"transcript": "XM_047418456.1",
"protein_id": "XP_047274412.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 2583,
"cds_start": 2646,
"cds_end": null,
"cds_length": 7752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418456.1"
},
{
"aa_ref": "ER",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.2646_2649delAAGA",
"hgvs_p": "p.Glu882fs",
"transcript": "XM_047418457.1",
"protein_id": "XP_047274413.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 2583,
"cds_start": 2646,
"cds_end": null,
"cds_length": 7752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418457.1"
},
{
"aa_ref": "ER",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.2646_2649delAAGA",
"hgvs_p": "p.Glu882fs",
"transcript": "XM_047418458.1",
"protein_id": "XP_047274414.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 2583,
"cds_start": 2646,
"cds_end": null,
"cds_length": 7752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418458.1"
},
{
"aa_ref": "ER",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.2646_2649delAAGA",
"hgvs_p": "p.Glu882fs",
"transcript": "XM_047418459.1",
"protein_id": "XP_047274415.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 2583,
"cds_start": 2646,
"cds_end": null,
"cds_length": 7752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418459.1"
},
{
"aa_ref": "ER",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.2100_2103delAAGA",
"hgvs_p": "p.Glu700fs",
"transcript": "XM_047418460.1",
"protein_id": "XP_047274416.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 2401,
"cds_start": 2100,
"cds_end": null,
"cds_length": 7206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418460.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.*2041_*2044delAAGA",
"hgvs_p": null,
"transcript": "ENST00000466062.3",
"protein_id": "ENSP00000428073.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 354,
"cds_start": null,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466062.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.*2045_*2048delAAGA",
"hgvs_p": null,
"transcript": "ENST00000699991.1",
"protein_id": "ENSP00000514742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 78,
"cds_start": null,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699991.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.229-3343_229-3340delAAGA",
"hgvs_p": null,
"transcript": "ENST00000911479.1",
"protein_id": "ENSP00000581538.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": null,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911479.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "c.200-3380_200-3377delAAGA",
"hgvs_p": null,
"transcript": "ENST00000496806.2",
"protein_id": "ENSP00000428857.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": null,
"cds_end": null,
"cds_length": 770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496806.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "n.*3013_*3016delAAGA",
"hgvs_p": null,
"transcript": "ENST00000699925.1",
"protein_id": "ENSP00000514691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699925.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "n.6526_6529delAAGA",
"hgvs_p": null,
"transcript": "ENST00000699989.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000699989.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"hgvs_c": "n.*3013_*3016delAAGA",
"hgvs_p": null,
"transcript": "ENST00000699925.1",
"protein_id": "ENSP00000514691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000699925.1"
}
],
"gene_symbol": "ZNF292",
"gene_hgnc_id": 18410,
"dbsnp": "rs1135401779",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.462,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_015021.3",
"gene_symbol": "ZNF292",
"hgnc_id": 18410,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3066_3069delAAGA",
"hgvs_p": "p.Glu1022fs"
}
],
"clinvar_disease": " autosomal dominant 64,Intellectual developmental disorder,Intellectual disability,Neurodevelopmental disorder",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Intellectual disability|Neurodevelopmental disorder|Intellectual developmental disorder, autosomal dominant 64",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}